Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
Author:
Affiliation:
1. 1Paediatric Endocrinology Unit, Department of Paediatrics
2. 2Paediatric Nephrology Service, Vall d’Hebron Hospital, Autonomous University of Barcelona, CIBERER, Barcelona Spain
Abstract
Publisher
Bioscientifica
Subject
Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://edm.bioscientifica.com/downloadpdf/journals/edm/2017/1/EDM16-0133.xml
Reference10 articles.
1. Hyperinsulinemic hypoglycemia – the molecular mechanisms;Nessa;Frontiers in Endocrinology,2016
2. Grupo Colaborador Español. Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood;Carrascosa Lezcano;Anales de Pediatría,2008
3. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene;Pearson;PLoS Medicine,2008
4. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations;Flanagan;European Journal of Endocrinology,2010
5. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.;Stanescu;Journal of Clinical Endocrinology and Metabolism,2012
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1. Low‐dose diazoxide therapy in hyperinsulinaemic hypoglycaemia;Clinical Endocrinology;2023-12-07
2. De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome;Journal of Nephrology;2023-06-13
3. Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes;Molecular Syndromology;2023
4. Carnitine deficiency, hearing loss and hydrochlorothiazide‐induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A;American Journal of Medical Genetics Part A;2022-07-31
5. Corticosteroid-induced bradycardia in multiple sclerosis and maturity-onset diabetes of the young due to hepatocyte nuclear factor 4-alpha mutation: A case report;World Journal of Clinical Cases;2022-07-26
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